SRI — 39 ClinVar variants
All ClinVar germline SRI variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 26 flagged for review →
1 Pathogenic · 11 Benign · 27 Uncertain significance
Full SRI gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 26
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 22
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SRI p.Ala128Thr Uncertain significance Single submitter
- SRI p.Arg116Lys Uncertain significance Single submitter
- SRI p.Arg147Gln Uncertain significance Single submitter
- SRI p.Arg176Gln Uncertain significance Single submitter
- SRI p.Arg76Trp Uncertain significance Single submitter
- SRI p.Asp113His Uncertain significance Single submitter
- SRI p.Asp158His Uncertain significance Single submitter
- SRI p.Asp46Gly Uncertain significance Single submitter
- SRI p.Cys194Arg Uncertain significance Single submitter
- SRI p.Gln126Arg Uncertain significance Single submitter
- SRI p.Gly104Ser Uncertain significance Single submitter
- SRI p.Gly88Asp Uncertain significance Single submitter
- SRI p.Ile110Val Uncertain significance Single submitter
- SRI p.Ile63Thr Uncertain significance Single submitter
- SRI p.Met78Thr Uncertain significance Single submitter
- SRI p.Met81Val Uncertain significance Single submitter
- SRI p.Met86Leu Uncertain significance Single submitter
- SRI p.Thr170Ile Uncertain significance Single submitter
- SRI p.Thr170Lys Uncertain significance Single submitter
- SRI p.Val101Ile Uncertain significance Single submitter
- SRI p.Val141Met Uncertain significance Single submitter
- SRI p.Val164Ile Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All SRI variants
Pathogenic 1
- c.206-1G>A Single submitter Inborn genetic diseases
Benign 11
- c.136-5A>G Multiple submitters
- c.206-23A>G Multiple submitters
- c.250-245A>G Multiple submitters
- c.250-83T>C Multiple submitters
- c.7-1322G>A Multiple submitters
- c.*108T>C Multiple submitters
- c.136-150A>C Single submitter
- c.249+33dup Single submitter
- c.571-194C>T Single submitter
- c.7-1417_7-1416del Single submitter
- c.7-1446T>C Single submitter
Uncertain significance 27
- p.Ala128Thr Single submitter ⚠
- p.Arg116Lys Single submitter ⚠
- p.Arg147Gln Single submitter ⚠
- p.Arg176Gln Single submitter ⚠
- p.Arg76Trp Single submitter ⚠
- p.Asp113His Single submitter ⚠
- p.Asp158Asn Single submitter ⚠
- p.Asp158His Single submitter ⚠
- p.Asp46Gly Single submitter ⚠
- p.Cys194Arg Single submitter ⚠
- p.Gln126Arg Single submitter ⚠
- p.Gly104Ser Single submitter ⚠
- p.Gly66Arg Single submitter ⚠
- p.Gly88Asp Single submitter ⚠
- p.Ile110Val Single submitter ⚠
- p.Ile63Thr Single submitter ⚠
- p.Met132Val Single submitter ⚠
- p.Met78Thr Single submitter ⚠
- p.Met81Val Single submitter ⚠
- p.Met86Leu Single submitter ⚠
- p.Met86Thr Single submitter
- p.Thr170Ile Single submitter ⚠
- p.Thr170Lys Single submitter ⚠
- p.Tyr36Cys Single submitter ⚠
- p.Val101Ile Single submitter ⚠
- p.Val141Met Single submitter ⚠
- p.Val164Ile Single submitter ⚠